ClinVar Miner

List of variants in gene RPE65

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Total variants: 156
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2(RPE65):c.495_495+1insG rs281865288
NM_000329.3(RPE65):c.*511G>A rs149449684
NM_000329.3(RPE65):c.*517G>A rs574708413
NM_000329.3(RPE65):c.*531A>G rs3118418
NM_000329.3(RPE65):c.*588C>A rs541546843
NM_000329.3(RPE65):c.*611G>A rs2182315
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*915C>G rs3118416
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.1046_1047insTGG (p.Trp350_Glu351insGly) rs61752910
NM_000329.3(RPE65):c.1053A>G (p.Glu351=) rs62642585
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del) rs61751280
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+34T>A rs61751275
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.110G>C (p.Trp37Ser) rs1557603965
NM_000329.3(RPE65):c.1120del (p.Ile374fs) rs62653013
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly) rs62635773
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1203_1206CTGG[3] (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro) rs62636296
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys) rs62636302
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) rs62637002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1350G>T (p.Leu450=) rs62637003
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn) rs62637005
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1451-22C>T rs281865290
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer) rs886042807
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.203A>C (p.His68Pro) rs1557603862
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly) rs281865287
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742
NM_000329.3(RPE65):c.231C>A (p.Val77=) rs61752868
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs) rs61752872
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) rs61752874
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220
NM_000329.3(RPE65):c.353+1G>T rs61752876
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.570C>T (p.Tyr190=) rs61752885
NM_000329.3(RPE65):c.57_58del (p.Glu20fs) rs62642582
NM_000329.3(RPE65):c.609C>T (p.Ala203=) rs61752886
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.643+1G>C rs61752889
NM_000329.3(RPE65):c.643+22C>T rs2274321
NM_000329.3(RPE65):c.643+5G>A rs61752890
NM_000329.3(RPE65):c.644-1G>T rs61752892
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.644-33C>G rs1925955
NM_000329.3(RPE65):c.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly) rs62646881
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.722A>G (p.His241Arg) rs1557600322
NM_000329.3(RPE65):c.725+4A>G rs61752897
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.778_785del (p.Asn260fs) rs63749059
NM_000329.3(RPE65):c.793C>T (p.Leu265Phe) rs1457086571
NM_000329.3(RPE65):c.80C>T (p.Thr27Ile) rs794727245
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.858+4A>G rs61752900
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.894del (p.Lys298fs) rs61752903
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904
NM_000329.3(RPE65):c.94+10G>A
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000329.3(RPE65):c.95G>T (p.Gly32Val) rs61751278
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)

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